Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000196113 | SCV000251367 | benign | not specified | 2014-08-21 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV000539812 | SCV000652839 | benign | Combined oxidative phosphorylation defect type 14 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Wong Mito Lab, |
RCV000539812 | SCV000845669 | likely benign | Combined oxidative phosphorylation defect type 14 | 2018-06-13 | criteria provided, single submitter | clinical testing |